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中国北京市区健康人群白细胞介素6基因启动子区基因的多态性及与亚裔和高加索人群的比较 被引量:8

Polymorphisms of interleukin-6 gene promoter region in the healthy population in Beijing city of China:comparison with Asian descendants and Caucasian
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摘要 目的:动脉硬化、老年痴呆、糖尿病、骨质疏松等均有循环中炎症介质持续升高的表现。观察北京市区健康人循环中炎症介质白细胞介素6启动子区基因多态性与循环中白细胞介素6、超敏C反应蛋白和纤维蛋白原的关系,并评价白细胞介素6基因多态性的种族差异。方法:采用随机整群抽样的方法于2003-03/2004-03筛选中国北京地区30岁以上自我评价健康的汉族居民662人,男365人,女297人。通过身体检查及血液学及血生化学检测,了解调查对象健康状况;测定入选人群白细胞介素6、超敏C反应蛋白和纤维蛋白原;检测白细胞介素6启动子区174(G/C),597(G/A),572(G/C)基因多态性,观察其与循环中炎症指标白细胞介素6、超敏C反应蛋白和纤维蛋白原的关系。结果:按意向处理分析,进入结果分析662人。①入选健康成人662人,174位均为GG型,未发现GC和CC型;597位GG型占99.24%,仅有5人为GA型,未发现CC型;572位存在GG,CC,GC3种基因型,G和C等位基因频率分别为0.22和0.78,基因型和等位基因频率均无性别差异。②G等位基因(GG+GC型)携带者循环中白细胞介素6、超敏C反应蛋白和纤维蛋白原水平明显高于CC基因型犤(2.91±2.21)ng/L,(2.43±2.31)mg/L,(3.05±0.71)g/L;(2.44±1.47)ng/L,(1.41±1.57)mg/L,(2.70±0.64)g/L,P=0.03,0.01,0.01犦。③中国北京地区汉族人群白细胞介素6启动子区174(G/C),597(G/A)、572(G/C)的基因型分布与日本、韩国亚裔人群相似(174位和597位几乎均为GG型,572位G等位基因频率分别为0.28,0.23,0.25,P>0.05),而明显不同于德国、瑞典高加索人群(174位存在GG,GC,CC,597位存在GG,GA,AA3种基因型,572位G等位基因频率分别为0.95,0.93,P<0.01)。结论:白细胞介素6启动子区174(G/C),597(G/A),572(G/C)基因多态性存在种族差异,亚裔人群不存在174(G/C),597(G/A)基因多态性,572位基因型频率也明显不同于高加索人群。572(G/C)位存在基因多态性并影响循环中白细胞介素6的表达从而影响机体炎症状态,G等位基因为少见基因,其携带者白细胞介素6和超敏C反应蛋白水平明显高于CC型个体。 AIM:The manifestations of continuous increase of inflammatory medium in circulation exist in arteriosclerosis,senile dementia,diabetes mellitus and osteoporosis.This study was designed to observe the association of the polymorphisms of inflammatory medium interleukin 6 gene promoter region in circulation with interleukin 6,high sensitive C reactive protein and fibrinogen in circulation among the healthy population in Beijing city,and assess the race difference of the polymorphisms of interleukin 6 gene.METHODS:A total of 662 Han residents(365 males and 297 females) aged above 30 years old in Beijing city of China,who were healthy with self evaluation,were selected with the method of random cluster sampling between March 2003 and March 2004.The healthy status of the subjects were investigated by physical examination,hematological and blood biochemical determinations;The levels of interleukin 6,high sensitive C reactive protein and fibrinogen of the subjects were detected;The interleukin 6 gene promoter region 174(G/C),597(G/A) and 572(C/G) polymorphisms were determined,and their correlations with the inflammatory indexes of interleukin 6,high sensitive C reactive protein and fibrinogen in circulation were observed.RESULTS:According to intention to treat analysis,all the 662 subjects were involved in the analysis of results.① Among the 662 healthy adults,only GG genotype but no GC and CC genotype was found at 174 site;At 597 site,99.24% of the subjects had GA genotype,and only 5 subjects had GA genotype,and no CC genotype was found;All the GG,CC and GC genotypes existed at 572 site,the frequencies of G and C alleles were 0.22 and 0.78 respectively.There was no gender difference in genotype and allele frequencies.② The levels of interleukin 6,high sensitive C reactive protein and fibrinogen were higher in carriers of G alleles(GG+ GC genotype) than in those with CC genotype[(2.91± 2.21) ng/L,(2.43± 2.31) mg/L,(3.05± 0.71)g/L;(2.44± 1.47)ng/L,(1.41± 1.57) mg/L,(2.70 ± 0.64)g/L,P=0.03,0.01,0.01].③ The distributions of interleukin 6 promoter region 174(G/C),597(G/A) and 572(C/G) genotype in Han people in Beijing city of China were similar to those in Japanese and Korean Asian descendants(There was almost only GG genotype at 174 and 597 sites,the frequencies of G allele at 572 site were 0.28,0.23 and 0.25 respectively,P >0.05),but obviously different from those in German and Swedish Caucasians(Three genotypes of CC,CG and GG were found at 174 site,and GG,GA and AA existed at 597 site;the frequencies of G allele at 572 site were 0.95 and 0.93 respectively,P< 0.01).CONCLUSION:There is race difference in the polymorphism of interleukin 6 promoter region 174(G/C),597(G/A),572(G/C),Asian descendants have no 174(G/C),597(G/A) polymorphism,and the genotypic frequency at 572 site is also obviously different from that in Caucasians.The gene polymorphism existing at 572(G/C) site affects the expression of interleukin 6,and then affects the inflammatory status of organ,G allele is the rare gene,the levels of interleukin 6 and high sensitive C reactive protein in its carriers are obviously higher than those in the individuals with CC genotype.
出处 《中国临床康复》 CSCD 北大核心 2005年第19期116-118,共3页 Chinese Journal of Clinical Rehabilitation
基金 国家重点基础研究发展规划(973项目)(G2000057006) 国家自然科学基金创新研究群体科学基金(30121005)~~
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